This website provides information on patients with mutations in the FRMPD4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FRMPD4 gene is a multisystem disorder characterized by intellectual disability, delayed speech and language, delayed gross motor development, behavioral disturbances, tremors, dystonia, hypotonia, spasticity, and seizures. Not all individuals with a mutation in the FRMPD4 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FRMPD4 gene.

Philippe Campeau, MD, FCCMG, Clinical Associate Professor, Department of Pediatrics, University of Montreal, Montreal, QC, Canada, p.campeau@umontreal.ca

Meagan Collins, MS, McGill University, Montreal, QC, Canada, meagan.collins@mail.mcgill.ca